Variant report

Variant	rs523995
Chromosome Location	chr6:161915895-161915896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1535054	0.83[CHB][hapmap]
rs1535055	1.00[CHB][hapmap]
rs4708911	0.93[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4708912	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4708913	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4708914	0.83[CHB][hapmap]
rs4709532	0.81[CEU][hapmap]
rs4709533	1.00[ASW][hapmap];0.86[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs475158	0.80[CHB][hapmap];0.87[CHD][hapmap]
rs476105	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap]
rs476161	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap]
rs480470	0.89[CHB][hapmap]
rs480557	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs481910	0.85[ASN][1000 genomes]
rs482420	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap]
rs482675	0.93[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs482845	0.91[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs483366	0.81[CHD][hapmap]
rs492267	0.92[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap]
rs493806	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.91[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495991	0.83[CHB][hapmap]
rs496759	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap]
rs497002	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs503890	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap]
rs505555	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap]
rs505693	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap]
rs505845	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs506428	0.89[CHB][hapmap]
rs507499	1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.80[TSI][hapmap]
rs508517	0.93[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs508605	1.00[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs510849	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs510968	0.94[CHB][hapmap]
rs513141	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs515801	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs515878	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs517658	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs518666	1.00[CHB][hapmap]
rs520732	0.93[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs521641	0.93[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs523179	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap]
rs526020	1.00[CHB][hapmap]
rs526207	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs528061	0.90[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs531449	0.93[CEU][hapmap];0.94[CHB][hapmap]
rs536667	0.93[CEU][hapmap];0.94[CHB][hapmap]
rs539455	0.93[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs541480	1.00[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs543888	0.94[CHB][hapmap]
rs545310	0.93[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs545749	0.87[ASN][1000 genomes]
rs548060	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap]
rs551770	0.80[CHB][hapmap];0.85[CHD][hapmap]
rs551941	0.93[CEU][hapmap];0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs551962	0.80[CHB][hapmap];0.87[CHD][hapmap]
rs568893	0.94[CHB][hapmap];0.92[CHD][hapmap]
rs569463	0.80[CHB][hapmap]
rs576613	0.84[CHB][hapmap]
rs6900584	0.94[CHB][hapmap]
rs6905156	0.89[CHB][hapmap]
rs6927018	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6928820	0.83[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs693282	0.80[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap]
rs6937817	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs766313	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs9364598	0.82[CEU][hapmap]
rs9365292	0.80[EUR][1000 genomes]
rs9456679	0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9458289	0.91[LWK][hapmap];1.00[YRI][hapmap]
rs992421	0.87[LWK][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830854	chr6:161739926-161927515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv518931	chr6:161793319-162406335	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv481861	chr6:161802883-162160197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv481981	chr6:161829077-162215745	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033603	chr6:161844266-162001436	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv481750	chr6:161850976-161996586	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv481932	chr6:161862158-162097499	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv886822	chr6:161891388-161958898	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv886823	chr6:161891388-161971398	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv886824	chr6:161891388-161982988	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv886825	chr6:161891388-162184932	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs523995	SLC22A1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161904800-161927800	Weak transcription	Fetal Kidney	kidney
2	chr6:161906000-161919400	Weak transcription	Pancreas	Pancrea
3	chr6:161909400-161924600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:161914200-161918400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:161914800-161917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:161915000-161916600	Enhancers	Right Atrium	heart
7	chr6:161915000-161918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:161915200-161916000	Enhancers	Psoas Muscle	Psoas
9	chr6:161915400-161917200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:161915600-161916000	Enhancers	Adipose Nuclei	Adipose
11	chr6:161915800-161916400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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